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Your search keyword '"Suma K"' showing total 11 results
Start Over Author "Suma K" Topic heart defects, congenital
11 results on '"Suma K"'

1. Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.

Author

Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, Tripathi S, Dsouza NR, Zimmermann MT, Mahnke DK, Liang HL, Lund M, Lin CW, Geddes GC, Mitchell ME, and Tomita-Mitchell A

Subjects
Adult, Binding Sites, Child, Child, Preschool, Cullin Proteins metabolism, Ebstein Anomaly pathology, Female, Genetic Testing, Heart Defects, Congenital pathology, Humans, Infant, Newborn, Male, Middle Aged, Pedigree, Protein Binding, Ebstein Anomaly genetics, Heart Defects, Congenital genetics, Loss of Function Mutation
Abstract

Background: Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC., Methods: We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models., Results: Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch-like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC-affected individuals (FBAT p < .05). Investigating structural implications of the candidate variant using protein prediction models suggested that the KLHL26 variant disrupts electrostatic interactions when binding to part of the ubiquitin proteasome, specifically Cullin3 (CUL3), a component of E3 ubiquitin ligase., Conclusion: In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)

Published
2020
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3. [Investigation of collaterals between the coronary and the bronchial arteries in cyanotic heart disease (author's transl)].

Author

Shiroma K, Suma K, Takeuchi Y, Tsuji T, Inoue K, Yoshikawa T, Narumi J, and Koyama Y

Subjects
Adolescent, Adult, Child, Child, Preschool, Collateral Circulation, Coronary Vessel Anomalies diagnostic imaging, Female, Heart Defects, Congenital physiopathology, Humans, Male, Radiography, Bronchial Arteries abnormalities, Coronary Circulation, Heart Defects, Congenital diagnostic imaging
Published
1982

6. [A case of complete atrioventricular canal with pulmonary stenosis successfully treated by intracardiac surgery (author's transl)].

Author

Shiroma K, Nakajima K, Takeuchi Y, Tsuji T, Inoue K, Yamaguchi T, Kagami N, Koyama Y, Suma K, Kiguchi H, Asai T, and Kusakawa S

Subjects
Child, Preschool, Female, Heart Defects, Congenital complications, Humans, Polytetrafluoroethylene, Prostheses and Implants, Pulmonary Valve Stenosis complications, Heart Defects, Congenital surgery, Pulmonary Valve Stenosis surgery
Published
1977

10. [Case of Noonan's syndrome].

Author

Kudo T, Hanabusa S, Taniguchi A, Ogasawara N, and Suma K

Subjects
Adult, Craniofacial Dysostosis, Ear, External abnormalities, Elbow abnormalities, Humans, Karyotyping, Male, Neck abnormalities, Syndrome, Abnormalities, Multiple, Heart Defects, Congenital
Published
1972

11. Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction

Author

Donna K. Mahnke, Gabrielle C. Geddes, Richard J. Willes, Aoy Tomita-Mitchell, Michael G. Earing, Swarnendu Tripathi, Sai Suma K. Samudrala, Michele A. Frommelt, Michael E. Mitchell, Nikita R. Dsouza, Chien-Wei Lin, Karl Stamm, Michael R. Lund, Michael T. Zimmermann, Lauren M. North, and Huan Ling Liang

Subjects
0301 basic medicine, Adult, Heart Defects, Congenital, Male, Candidate gene, lcsh:QH426-470, Cardiomyopathy, 030105 genetics & heredity, Protein degradation, Biology, 03 medical and health sciences, symbols.namesake, Loss of Function Mutation, Ebstein's anomaly, Chromosome 19, ubiquitin proteasome, left‐ventricular noncompaction, Genetics, medicine, Humans, Genetic Testing, Child, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Binding Sites, Infant, Newborn, Original Articles, Middle Aged, Kelch‐like family member 26, medicine.disease, Cullin Proteins, congenital heart defects, Pedigree, Ebstein Anomaly, lcsh:Genetics, 030104 developmental biology, Child, Preschool, symbols, Left ventricular noncompaction, Female, Original Article, Protein Binding
Abstract

Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood regarding the genetic etiology of EA/LVNC. Our study describes a multigenerational family with at least 10 of 17 members affected by EA/LVNC. Methods We performed echocardiography on all family members and conducted exome sequencing of six individuals. After identifying candidate variants using two different bioinformatic strategies, we confirmed segregation with phenotype using Sanger sequencing. We investigated structural implications of candidate variants using protein prediction models. Results Exome sequencing analysis of four affected and two unaffected members identified a novel, rare, and damaging coding variant in the Kelch‐like family member 26 (KLHL26) gene located on chromosome 19 at position 237 of the protein (GRCh37). This variant region was confirmed by Sanger sequencing in the remaining family members. KLHL26 (c.709C > T p.R237C) segregates only with EA/LVNC‐affected individuals (FBAT p, Patient's Ebstein's anomaly (EA), a rare congenital heart disease of the tricuspid valve and right ventricle often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Our study identifies a novel, rare, and damaging coding variant c.709C > T (p.R237C) in the Kelch‐like family member 26 (KLHL26) gene with 10 affected out of 17 affected members using Sanger sequencing. Through structural modeling, we show that the KLHL26 variant may affect protein binding to Cullin3 (CUL3), a component of E3 ubiquitin ligase in the ubiquitin‐mediated protein degradation.

Published
2019

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